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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:nuclear type mitochondrial complex I deficiency 20
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Accession:DOID:0112072 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3. (DO)
Synonyms:exact_synonym: ACAD9 deficiency;   ACYL-CoA DEHYDROGENASE 9 DEFICIENCY;   MC1DN20;   deficiency of acyl-CoA dehydrogenase family, member 9;   mitochondrial complex 1 deficiency due to ACAD9 deficiency;   mitochondrial complex I deficiency due to ACAD9 deficiency
 primary_id: MESH:C567006
 alt_id: OMIM:611126
 xref: ORDO:99901
For additional species annotation, visit the Alliance of Genome Resources.


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nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:611126
OMIM
ClinVar
CTD
PMID:7599230, PMID:17564966, PMID:20929961, PMID:21057504, PMID:22200994, PMID:22277967, PMID:22499348, PMID:25326637, PMID:25721401, PMID:25741868, PMID:26669660, PMID:27233227, PMID:27884173, PMID:28492532, PMID:28529009, PMID:30025539, PMID:30311383, PMID:32313153 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:10338090, PMID:14972327, PMID:16786517, PMID:22267502, PMID:23981774, PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of ClinVar PMID:21057504, PMID:22499348, PMID:27233227, PMID:28492532 NCBI chr 4:119,572,669...119,626,852 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        Muscle Weakness 100
          nuclear type mitochondrial complex I deficiency 20 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        vascular disease 3354
          artery disease 2375
            aortic disease 612
              aortic valve disease 311
                aortic valve stenosis 287
                  subvalvular aortic stenosis 230
                    hypertrophic cardiomyopathy 225
                      nuclear type mitochondrial complex I deficiency 20 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.